The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

Abstract

BackgroundRare diseases pose many research challenges specific to their scarcity. Advances in potential therapies have made it more important than ever to be able to adequately identify not only patients with particular genotypes (via patient registries) but also the medical professionals who provide care for them at particular specialist centres of expertise and who may be competent to participate in trials. Work within the neuromuscular field provides an example of how this may be achieved.MethodsThis paper describes the development of the TREAT-NMD Care and Trial Site Registry (CTSR), an initiative of an EU-funded Network of Excellence, and its utility in providing an infrastructure for clinical trial feasibility, recruitment, and other studies.Results285 CTSR-registered centres, reporting 35,495 neuromuscular patients, are described alongside an analysis of their provision for DMD. Site characteristics vary by country: the average number of DMD patients seen per site in the United States (96) is more than in Germany (25), and paediatric/adult breakdown is also markedly distinct. Over 70% of sites have previous trial experience, with a majority including a Clinical Trials Unit. Most sites also have MLPA diagnostic capability and access to a range of medical specialists. However, in the three countries reporting most sites (US, the UK and Germany), few had access to all core DMD specialists internally. Over 60% of sites did not report any form of transition arrangement.ConclusionsRegistries of care and trial sites have significant utility for research into rare conditions such as neuromuscular diseases, demonstrated by the significant engagement by industry and other researchers with the CTSR. We suggest that this approach may be applicable to other fields needing to identify centres of expertise with the potential to carry out clinical research and engage in clinical trials. Such registries also lend themselves to the developing context of European Reference Networks (ERNs), which seek to build networks of centres of expertise which fit specific criteria, and which may themselves aid the sustainability of such registries. This is particularly the case given the utility of registries such as the CTSR in enabling networks of best-practice care centres.

The Pathogenesis and Therapy of Muscular Dystrophies

“…The TREAT-NMD network (http://www.treat-nmd.eu) has been instrumental in setting up much of the required infrastructure for DMD trials since 2007, including patient registries, a trial site registry, and standards of care (25,188,199). These tools are currently being maintained and are crucial when conducting multinational and/or multicenter clinical trials, which is more or less a given for rare diseases.…”

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

“…The aim of the TREAT-NMD Care and Trial Site Registry is to help industry and clinical investigators identify and select trial sites and potential partners for clinical studies in neuromuscular and neurodegenerative diseases. 20 The TREAT-NMD Advisory Committee for Therapeutics is composed of drug development experts from academia and industry, as well as representatives from patient and scientific research centres. This committee meets twice yearly to review and provide guidance on the translation and therapeutic development path for rare neuromuscular diseases with large unmet needs.…”

The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development

“…As part of this effort, the TREAT-NMD partners developed infrastructures to support trial readiness for NMD, considering the unique challenges of therapy development for rare diseases. TREAT-NMD tools and resources included standardised operating procedures for the assessment of animal models [1,2], biobanks [3], patient registries [4,5], a care and trial site registry [6], generation and dissemination of care guidelines [7,8], evaluation and elaboration of outcome measures [9][10][11], regulatory interactions [12], and an active Project Ethics Council [13].…”

“…5 Johns Hopkins University, Baltimore, USA. 6 Genethon, Evry, France. 7 University of Freiburg, Freiburg, Germany.…”